Most of the mutations causing deficiency of the pyruvate dehydrogenase (PDH) complex are in the X-linked E,a gene. We have developed a rapid screening method for the detection of mutations in this gene using reverse transcription of total RNA, polymerase chain reaction amplification of the whole cod
A novel mutation (P316L) in a female with pyruvate dehydrogenase E1α deficiency
✍ Scribed by Fumie Takakubo; David R. Thorburn; Ruth M. Brown; Garry K. Brown; Hans-Henrik M. Dahl
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 140 KB
- Volume
- 6
- Category
- Article
- ISSN
- 1059-7794
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## Abstract Prenatal depiction of brain dysgenesis in patients with pyruvate dehydrogenase complex (PDHc) deficiencies has been infrequently reported. As PDHc plays a critical role in the brain that obtains all of the energy from the aerobic oxidation of glucose, its deficiency is a severe inborn d
The α-ketoglutarate dehydrogenase complex (KGDC) catalyses the decarboxylation of αketoglutarate into succinyl-coenzyme A in the Krebs cycle. This enzymatic complex is made up of three subunits (E1, encoded by PDHA1; E2, encoded by DLST; and E3, encoded by DLD). The E3 subunit is common to two other